Ann Pediatr Endocrinol Metab.  2024 Feb;29(1):1-2. 10.6065/apem.2423018edi01.

Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"

• Jin HY

• KMID: 2553011
• DOI: http://doi.org/10.6065/apem.2423018edi01

Reference

References

1. Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab. 2014; 99:3080–92.

2. Blum WF, Klammt J, Amselem S, Pfaffle HM, Legendre M, Sobrier ML, et al. Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: frequencies, phenotypes and growth outcomes. EBioMedicine. 2018; 36:390–400.

3. Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet. 2014; 46:1173–86.

4. Baron J, Savendahl L, De Luca F, Dauber A, Phillip M, Wit JM, et al. Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol. 2015; 11:735–46.

5. Saltarelli MA, Quarta A, Chiarelli F. Growth plate extracellular matrix defects and short stature in children. Ann Pediatr Endocrinol Metab. 2022; 27:247–55.

6. Wit JM, Kamp GA, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children. Towards a rational and efficient diagnostic approach in children referred for growth failure to the general paediatrician. Horm Res Paediatr. 2019; 91:223–40.

7. Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R, Practice AP, et al. Focused revision: ACMG practice resource: genetic evaluation of short stature. Genet Med. 2021; 23:813–5.

8. Savage MO, Storr HL. Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches. Ann Pediatr Endocrinol Metab. 2021; 26:218–26.

9. Zhou E, Hauser BR, Jee YH. Genetic evaluation in children with short stature. Curr Opin Pediatr. 2021; 33:458–63.

10. Sentchordi-Montane L, Benito-Sanz S, Aza-Carmona M, Diaz-Gonzalez F, Modamio-Hoybjor S, de la Torre C, et al. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. Eur J Endocrinol. 2021; 185:691–705.

11. Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, et al. Multigene sequencing analysis of children born small for gestational age with isolated short stature. J Clin Endocrinol Metab. 2019; 104:2023–30.

12. Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, et al. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. Clin Genet. 2017; 92:594–605.

13. Kim SJ, Joo E, Seol CA, Lee JE. Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience. Ann Pediatr Endocrinol Metab. 2024; 29:38–46.

14. Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, et al. First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review. Ann Pediatr Endocrinol Metab. 2023; 28:67–72.

15. Kim MR, Yoo EG, Rhie S, Seo GH, Jung MK. Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review. Ann Pediatr Endocrinol Metab. 2023; 28(Suppl 1):S25–8.